Cargando…
Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia
BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare, highly heterogeneous genetic disorder involving the impairment of motile cilia. With no single gold standard for PCD diagnosis and complicated multiorgan dysfunction, the diagnosis of PCD can be difficult in clinical settings. Some methods for...
Autores principales: | Zhao, Xinyue, Bian, Chun, Liu, Keqiang, Xu, Wenshuai, Liu, Yaping, Tian, Xinlun, Bai, Jing, Xu, Kai-Feng, Zhang, Xue |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8252271/ https://www.ncbi.nlm.nih.gov/pubmed/34210339 http://dx.doi.org/10.1186/s13023-021-01840-2 |
Ejemplares similares
-
Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis
por: Liu, Keqiang, et al.
Publicado: (2020) -
Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants
por: Liu, Keqiang, et al.
Publicado: (2019) -
Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review
por: Peng, Bo, et al.
Publicado: (2022) -
Clinical and Genetic Comparison of Birt–Hogg–Dubé Syndrome (Hornstein–Knickenberg Syndrome) in Chinese: A Systemic Review of Reported Cases
por: Zhou, Wangji, et al.
Publicado: (2022) -
Clinical and genetic characteristics of cystic fibrosis in CHINESE patients: a systemic review of reported cases
por: Guo, Xiaobei, et al.
Publicado: (2018)